[HTML][HTML] Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain …
RM Wise, A Wagener, UM Fietzek, T Klopstock… - Neurobiology of …, 2022 - Elsevier
Dopamine metabolism, alpha-synuclein pathology, and iron homeostasis have all been
implicated as potential contributors to the unique vulnerability of substantia nigra …
implicated as potential contributors to the unique vulnerability of substantia nigra …
Human WIPI β‐propeller function in autophagy and neurodegeneration
T Proikas‐Cezanne, ML Haas… - FEBS …, 2024 - Wiley Online Library
The four human WIPI β‐propellers, WIPI1 through WIPI4, belong to the ancient PROPPIN
family and fulfill scaffold functions in the control of autophagy. In this context, WIPI β …
family and fulfill scaffold functions in the control of autophagy. In this context, WIPI β …
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative
disease associated with severe cognitive and motor deficits. BPAN pathophysiology and …
disease associated with severe cognitive and motor deficits. BPAN pathophysiology and …
Pathological characteristics of axons and alterations of proteomic and lipidomic profiles in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency
P Wang, Y Shao, M Al-Nusaif, J Zhang, H Yang… - Molecular …, 2024 - Springer
Background Although WD repeat domain 45 (WDR45) mutations have been linked to β-
propeller protein-associated neurodegeneration (BPAN), the precise molecular and cellular …
propeller protein-associated neurodegeneration (BPAN), the precise molecular and cellular …
AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegeneration
MC Carisi, CE Shamber, MM Bishop, ML Sangster… - bioRxiv, 2024 - biorxiv.org
Beta-propeller protein-associated neurodegeneration (BPAN) is an ultra-rare, X-linked
dominant, neurodegenerative disease caused by loss-of-function mutations in the WDR45 …
dominant, neurodegenerative disease caused by loss-of-function mutations in the WDR45 …
Genetic and Molecular Quality Control of Genetically Engineered Mice
LG Lintott, LMJ Nutter - Transgenesis: Methods and Protocols, 2023 - Springer
Genetically engineered mice are used as avatars to understand mammalian gene function
and develop therapies for human disease. During genetic modification, unintended changes …
and develop therapies for human disease. During genetic modification, unintended changes …
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report
A Ardissone, G Ferrera, K Derderian, R Izzo, B Gnutti… - 2024 - researchsquare.com
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I
deficiency: a case report Page 1 Page 1/7 WDR45-related encephalopathy mimicking Leigh …
deficiency: a case report Page 1 Page 1/7 WDR45-related encephalopathy mimicking Leigh …